TRAPPED - an insight into two sisters' struggle to access treatment for a rare genetic disease.

Medical student training is largely focused on acquiring knowledge of diseases and their management, which may leave one with a naïve perception of what is achievable in practice, particularly in the field of rare diseases. Tumour Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS) is a rare autoinflammatory disorder with a prevalence of one in a million. Its features include recurrent disabling episodes of high-grade fever associated with rash and arthralgia. Its rarity, combined with its somewhat vague and heterogenous clinical presentation, means that patients often suffer with TRAPS for years before they are diagnosed. Although it has a licensed treatment, Interleukin-1 blocker Anakinra, this is not currently funded by the NHS. This report provides an insight into the experiences of two sisters recently diagnosed with TRAPS, and the barriers they face preventing them from accessing the treatment they need, without which they are likely to suffer life-threatening organ failure. I have argued that the commissioning policy model for rare diseases needs reconsideration to improve access to Anakinra on a national level, and have highlighted the significant impact that clinicians can have on an individual level by being advocates for their patients.

Autologous biologic treatment for equine musculoskeletal injuries: platelet-rich plasma and IL-1 receptor antagonist protein.

Autologous biologic therapies such as platelet-rich plasma and autologous conditioned serum are in widespread clinical use to treat musculoskeletal pathology in horses. These substances exert a therapeutic effect through the provision of either anabolic or anti-catabolic factors, or a combination of both. This article discusses the history, experimental and clinical literature, and currently accepted preparation and usage strategies for both platelet-rich plasma and autologous conditioned serum.

The efficacy and safety of interleukin-1-receptor antagonist anakinra in the treatment of systemic juvenile idiopathic arthritis.

IMPORTANCE OF THE FIELD: Systemic juvenile idiopathic arthritis (sJIA) is a debilitating childhood disease presenting with fever, rash and arthritis. Current therapy consisting mainly of corticosteroids, NSAIDs and methotrexate, can be inefficient and is often accompanied by many serious adverse events. Although an IL-1 receptor antagonist (anakinra) seems to be very efficient in case series, it is not registered for use in sJIA. Pediatric rheumatologists all over the world are having a hard time to convince insurance companies to approve off-label use of this drug for their sJIA patients. AREAS COVERED IN THIS REVIEW: Using the MeSH terms 'Arthritis Juvenile Rheumatoid' and 'Interleukin 1 Receptor Antagonist Protein', we searched MEDLINE, EMBASE and reference lists of selected articles. This review is largely based on manuscripts from 2005 to 2010 and abstracts presented at the major (pediatric) rheumatology congresses. WHAT THE READER WILL GAIN: This review summarizes the data of 140 children with sJIA treated with anakinra and enables an understanding in the benefit-risk profile of anakinra in sJIA patients. TAKE HOME MESSAGE: Anakinra has shown to be a very efficient and quick acting medicine in reducing symptoms even in therapy-resistant sJIA patients with typically poor outcomes.

Treatment of knee osteoarthritis with Orthokine-derived autologous conditioned serum.

Osteoarthritis (OA) is the most prevalent arthritis in the world with increasing numbers of people expected to acquire the disease as the population ages. Therapies commonly used to manage the disease have limited efficacy and some carry significant risks. Current data suggest that the anti-inflammatory cytokine IL-1 receptor antagonist (IL-1Ra) can alter the inflammatory response and cartilage erosion present in OA. Intra-articular gene expression of IL-1Ra has shown promising results in animal models to provide symptomatic improvement and minimize osteoarthritic changes. Orthogen AG (Dusseldorf, Germany) has developed a method to produce an autologous conditioned serum (ACS) rich in IL-1Ra marketed as Orthokine. Study participants treated with ACS have improved pain and function; however, these results are preliminary and need confirmation. If ongoing trials prove that ACS can retard cartilage degeneration and reduce inflammation, the management of OA would be dramatically altered, perhaps providing a mechanism to prevent the disease or at least its progression.

Biologic drugs for rheumatoid arthritis in the Medicare program: a cost-effectiveness analysis.

OBJECTIVE: Since the introduction of the Medicare Prescription Drug Improvement and Modernization Act and its associated demonstration project, coverage of selected biologic drugs has been expanded for Medicare beneficiaries. For rheumatoid arthritis, coverage was extended to etanercept, adalimumab, and anakinra in addition to the previously covered infliximab. We undertook to develop a model to compare the costs and quality-adjusted life years (QALYs) generated by each of the 4 biologic agents. METHODS: Data were drawn from meta-analysis of randomized controlled trials and from a large longitudinal outcomes databank. Uncertainty was addressed using probabilistic and one-way sensitivity analyses. A lifetime horizon and Medicare viewpoint were adopted. RESULTS: In the base case analysis, anakinra was the least effective and least costly strategy. Etanercept, adalimumab, and infliximab were similar in terms of effectiveness, but infliximab was more costly. If decision makers are willing to pay a maximum of $50,000/QALY, the probability that infliximab is cost-effective is <1%. Findings were robust to a range of sensitivity analyses. Only if the dose of infliximab remains constant over time is this likely to be a cost-effective strategy. CONCLUSION: Infliximab is unlikely to be cost-effective in the Medicare population compared with either etanercept or adalimumab. Anakinra is substantially less costly but is also less effective than the 3 tumor necrosis factor alpha inhibitors.

Use of biologics in rheumatoid arthritis: where are we going?

PURPOSE: The pharmacology, efficacy, safety, and costs of biologic agents that are approved by the Food and Drug Administration or are under review for the management of rheumatoid arthritis (RA) are discussed. Biologic therapies that are currently under investigation in early- and late-phase clinical trials are summarized at the end of this report. SUMMARY: The use of biologic agents for the treatment of RA has significantly improved the management of this disease. Experimental and clinical studies have shown that these agents ameliorate the signs and symptoms of RA, slow radiographic progression of disease, and improve physical function and quality of life. Data also support that early initiation of therapy with these agents improves long-term outcomes. However, biologic agents are associated with adverse effects that health care providers need to recognize and manage. CONCLUSION: Biologic agents have revolutionized the treatment of RA by reducing the signs and symptoms of RA, slowing radiographic progression of joint destruction, and improving physical function and quality of life in affected patients.